Global Variome shared LOVD

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Phenotype #0000015248 Individual ID 00016846 Associated disease MCPH1 Phenotype details born at 41w of gestation after uneventful pregnancy. At birth, he showed an OFC at 1 SD, normal body weight (tenth percentile), and normal height (51st percentile). Seizures 1st hour of life consisted clonic movements of the right hemiface and lower limbs, drooling, and cyanosis. Seizures were polymorphic, long lasting, and harmacoresistant. Ictal EEG showed a ‘‘migrating’’ pattern consistent with migrating partial seizures in infancy. He showed global hypotonia and lack of visual interaction. ;5.5y: profound psychomotor delay, microcephaly (3 SDs), active epilepsy with weekly seizures that were resistant to antiepileptic drugs (AEDs). Dysmorphisms: Coarse facies, hypoplastic helix of ear and prominent upper lip. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Marianne Vos (LOVD-team) Date created 2014-06-01 21:14:52 +02:00 (CEST) Date last edited 2016-06-18 22:03:15 +02:00 (CEST)

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